Publications:

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FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

European Journal Of Human Genetics : Ejhg

Mortensen, Ólavur Ó; Thomsen, Elisabet E; Lydersen, Leivur N LN; Apol, Katrin D KD; Weihe, Pál P; Steig, Bjarni Á BÁ; Andorsdóttir, Guðrið G; Als, Thomas D TD; Gregersen, Noomi O NO

Publication Date: 2022-11-21

Variant appearance in text: rs1801178

PubMed Link: 36404349

Variant Present in the following documents:

• Main text
• 41431_2022_Article_1227.pdf

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-06

Variant appearance in text: rs1801178

PubMed Link: 34652573

Variant Present in the following documents:

• Main text
• 439_2021_Article_2385.pdf
• 439_2021_2385_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs1801178

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs1801178

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
• 41525_2021_203_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: I507V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.

Frontiers In Genetics

Abramovs, Nikita N; Brass, Andrew A; Tassabehji, May M

Publication Date: 2020

Variant appearance in text: rs1801178

PubMed Link: 32231685

Variant Present in the following documents:

• Main text
• fgene-11-00210.pdf
• Data_Sheet_1.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs1801178

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM11_ESM.xlsx, sheet 8

View BVdb publication page

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Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale.

Genome Biology

Kotlar, Alex V AV; Trevino, Cristina E CE; Zwick, Michael E ME; Cutler, David J DJ; Wingo, Thomas S TS

Publication Date: 2018-02-06

Variant appearance in text: rs1801178

PubMed Link: 29409527

Variant Present in the following documents:

• 13059_2018_1387_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Thirty Years of Sweat Chloride Testing at One Referral Center.

Frontiers In Pediatrics

Faria, Alethéa Guimarães AG; Marson, Fernando Augusto Lima FAL; Gomez, Carla Cristina Souza CCS; Servidoni, Maria de Fátima MF; Ribeiro, Antônio Fernando AF; Ribeiro, José Dirceu JD

Publication Date: 2017

Variant appearance in text: CFTR: I507V

PubMed Link: 29124052

Variant Present in the following documents:

• Main text
• fped-05-00222.pdf

View BVdb publication page

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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening

Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK

Publication Date: 2016

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 28261631

Variant Present in the following documents:

• Main text
• nihms822513.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CFTR: 1519A>G; I507V; rs1801178

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: I507V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 1519A>G; Ile507Val

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

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Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Marson, Fernando Augusto de Lima FA; Bertuzzo, Carmen Silvia CS; Ribeiro, Maria Ângela Gonçalves de Oliveira MÂ; Ribeiro, Antônio Fernando AF; Ribeiro, José Dirceu JD

Publication Date: 2013

Variant appearance in text: CFTR: I507V

PubMed Link: 23857699

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-39-03-00306.pdf

View BVdb publication page

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Newborn screening for cystic fibrosis in Alberta: Two years of experience.

Paediatrics & Child Health

Lilley, Margaret M; Christian, Susan S; Hume, Stacey S; Scott, Patrick P; Montgomery, Mark M; Semple, Lisa L; Zuberbuhler, Peter P; Tabak, Joan J; Bamforth, Fiona F; Somerville, Martin J MJ

Publication Date: 2010-11

Variant appearance in text: CFTR: I507V

PubMed Link: 22043142

Variant Present in the following documents:

• Main text

View BVdb publication page

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: I507V

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequence analysis of the human tyrosylprotein sulfotransferase-2 gene in subjects with chronic pancreatitis.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]

Rosendahl, Jonas J; Rónai, Zsolt Z; Kovacs, Peter P; Teich, Niels N; Wittenburg, Henning H; Blüher, Matthias M; Stumvoll, Michael M; Mössner, Joachim J; Keim, Volker V; Bradbury, Andrew R M AR; Sahin-Tóth, Miklós M

Publication Date: 2010

Variant appearance in text: CFTR: I507V

PubMed Link: 20460947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Chandrasekharan, Subhashini S; Heaney, Christopher C; James, Tamara T; Conover, Chris C; Cook-Deegan, Robert R

Publication Date: 2010-04

Variant appearance in text: CFTR: I507V

PubMed Link: 20393308

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV

Publication Date: 2009-05

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 19359498

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.

The Journal Of Molecular Diagnostics : Jmd

Schwartz, Karen M KM; Pike-Buchanan, Lisa L LL; Muralidharan, Kasinathan K; Redman, Joy B JB; Wilson, Jean Amos JA; Jarvis, Michael M; Cura, M Grace MG; Pratt, Victoria M VM

Publication Date: 2009-05

Variant appearance in text: CFTR: 1519A>G; I507V

PubMed Link: 19324992

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: CFTR: I507V; rs1801178

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comparative study of five technologically diverse CFTR testing platforms.

The Journal Of Molecular Diagnostics : Jmd

Johnson, Monique A MA; Yoshitomi, Marvin J MJ; Richards, C Sue CS

Publication Date: 2007-07

Variant appearance in text: CFTR: I507V

PubMed Link: 17591940

Variant Present in the following documents:

• Main text

View BVdb publication page

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Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel.

The Journal Of Molecular Diagnostics : Jmd

Strom, Charles M CM; Janeszco, Richard R; Quan, Franklin F; Wang, Sheng-biao SB; Buller, Arlene A; McGinniss, Matthew M; Sun, Weimin W

Publication Date: 2006-07

Variant appearance in text: CFTR: I507V

PubMed Link: 16825511

Variant Present in the following documents:

• Main text

View BVdb publication page

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Survey of CF mutations in the clinical laboratory.

Bmc Clinical Pathology

Huber, Klaus K; Mirkovic, Borka B; Nersesian, Rhea R; Myers, Angela A; Saiki, Randall R; Bauer, Kurt K

Publication Date: 2002-11-19

Variant appearance in text: CFTR: I507V

PubMed Link: 12437773

Variant Present in the following documents:

• Main text
• 1472-6890-2-4.pdf

View BVdb publication page

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